Identification of Novel TMC1Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing
Journal Title: Scientific Journal of Genetics and Gene Therapy - Year 2016, Vol 2, Issue 1
Abstract
Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and DFNB7/11, respectively. Here, we characterized a 5-year old girl with severe sensorineural hearing loss. By combining targeted capture of 140 known deafness genes, next-generation sequencing and bioinformatic analysis, we identified two compound heterozygous mutations TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) as the disease-causing mutations. Our results indicated that TMC1 c.1333C>T (p.R445C) and c.1765A>G (p.M589V) lead to hearing loss in this family and highlight the power of combining deafness gene capture and next generation sequencing for identification of defective genes in sporadic cases with hearing loss. This approach will facilitate identification of the mutation spectrum of all known deaf genes.
Authors and Affiliations
Gao Xue, Huang Sha-Sha, Su Yu, Xu Jin-Cao, Dai Pu
Keywords
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- EP ID EP555568
- DOI 10.17352/sjggt.00009
- Views 59
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Identification of Novel TMC1Compound Heterozygous Mutations Related to Autosomal Recessive Hearing Loss by Targeted Capture Sequencing
Mutations in the transmembrane channel-like gene1 (TMC1) are known to cause autosomal dominant and recessive forms of nonsyndromic hearing loss DFNA36 and DFNB7/11, respectively. Here, we characteri...